Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree.

Objective: Growth hormone insensitivity (GHI) may be caused by failure of GH receptor function. Some patients bearing specific GHR mutations differ from classical GHI individuals by extremely elevated GH-binding protein (GHBP) serum concentrations. We investigated clinical, genetic and biochemical characteristics of a severely growth-retarded Chinese boy with classical Laron syndrome manifestations.

Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance.

Infants born small for gestational age (SGA) are at risk to develop metabolic complications. Insulin-like growth factor 1 (IGF-1) resistance due to IGF-1 receptor (IGF1R) mutations is a rare genetic condition that causes proportionate growth retardation. The contribution of an impaired IGF1R function to the development of comorbidities such as disturbed glucose homeostasis is not well understood.

Alu-mediated recombination defect in IGF1R: haploinsufficiency in a patient with short stature.

Background: The insulin-like growth factor (IGF) receptor (IGF1R) is essential for normal development and growth. IGF1R mutations cause IGF-1 resistance resulting in intrauterine and postnatal growth failure. The phenotypic spectrum related to IGF1R mutations remains to be fully understood.

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.

Context: The GLI2 transcription factor is a major effector protein of the sonic hedgehog pathway and suggested to play a key role in pituitary development. Genomic GLI2 aberrations that mainly result in truncated proteins have been reported to cause holoprosencephaly or holoprosencephaly-like features, sometimes associated with hypopituitarism.

Objective: Our objective was to determine the frequency of GLI2 mutations in patients with multiple pituitary hormone deficiency (MPHD).

A novel GH1 mutation in a family with isolated growth hormone deficiency type II.

Background: Four distinct familial types of isolated GH deficiency (IGHD) have been described so far.

Objective: We report a novel nonsense GH1 mutation in a father and a son.

Patients: Father's height was 137.

A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies.

Objective: There are many genes reported to have been associated with combined pituitary hormone deficiencies, but mutations in HESX1 strongly correlate with septo-optic dysplasia. Our aim was to determine the cause of panhypopituitarism in our patient.

Patients And Methods: We studied an 8-month-old child having panhypopituitarism.

Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.

Context: The LHX4 LIM-homeodomain transcription factor has essential roles in pituitary gland and nervous system development. Heterozygous mutations in LHX4 are associated with combined pituitary hormone deficiency.

Objectives: Our objectives were to determine the nature and frequency of LHX4 mutations in patients with pituitary hormone deficiency and to examine the functional outcomes of observed mutations.

Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

Context: The Lhx3 LIM-homeodomain transcription factor gene is required for development of the pituitary and motoneurons in mice. Human LHX3 gene mutations have been reported in five subjects with a phenotype consisting of GH, prolactin, TSH, LH, and FSH deficiency; abnormal pituitary morphology; and limited neck rotation.

Objective: The objective of the study was to determine the frequency and nature of LHX3 mutations in patients with isolated GH deficiency or combined pituitary hormone deficiency (CPHD) and characterize the molecular consequences of mutations.

The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor.

Context: A variant of the human GH receptor (GHR) lacks a 22-amino-acid sequence derived from exon 3 (d3-GHR). It was reported that pediatric patients, born small for gestational age or with idiopathic short stature who were homozygous or heterozygous for this variant responded better to GH treatment than those homozygous for the full-length allele (fl-GHR).

Objective: The objective was to study the impact of the GHR genotype on the phenotype and growth response in patients with isolated GH deficiency (IGHD) treated with GH.

Imaging and radiological interventions of portal vein thrombosis.

Portal vein thrombosis (PVT) is diagnosed by imaging methods. Once diagnosed by means of ultrasound, Doppler ultrasound can be performed to distinguish between a benign and malignant thrombus. If further information is required, magnetic resonance angiography or contrast-enhanced computed tomography is the next step, and if these tests are unsatisfactory, digital subtraction angiography should be performed.

Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.

Objective: Multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern early pituitary development. We aimed to establish the prevalence of HESX1, PROP1, and POU1F1 gene defects in a population-based cohort of patients with MPHD and to analyse the phenotype of affected individuals.

Design And Methods: Genomic analysis was carried out on 74 children and adults with MPHD from the Czech Republic (including four sibling pairs).

A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.

Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which eyelid malformation is associated with (type I BPES) or without premature ovarian failure (type II BPES). Mutations of a putative winged helix/forkhead transcription factor FOXL2 account for both types of BPES. We report on a 16-year-old adolescent girl with blepharophimosis and ptosis.

Portal vein thrombosis: etiology, diagnostic strategy, therapy and management.

Myeloproliferative disorder, liver cirrhosis with portal hypertension, deficiency of natural anticoagulant proteins, gene mutation and hepatocellular carcinoma are the most frequent causes of portal vein thrombosis (PVT). Higher accuracy of the diagnostic methods is the reason why today the cause of PVT can be found more frequently. With imaging methods, PVT with or without cavernous transformation can be diagnosed.

PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.

Mutations in the PROP1 gene are the most frequent genetic defects in patients with combined pituitary hormone insufficiency. However, controversy exists about the timing and extent of pituitary insufficiency, and it remains unclear whether adrenal failure is a typical feature of this condition. We performed a retrospective longitudinal analysis of nine patients with PROP1 mutations who were under medical supervision at our clinic for 15.

Tumor necrosis factor receptor-associated factor 1 gene overexpression in B-cell chronic lymphocytic leukemia: analysis of NF-kappa B/Rel-regulated inhibitors of apoptosis.

B-cell chronic lymphocytic leukemia (B-CLL) is characterized by a resistance toward apoptosis-inducing agents. Nuclear factor-kappaB (NF-kappaB)/Rel has been shown to regulate the expression of antiapoptotic genes, such as members of the inhibitor of apoptosis protein (IAP) and tumor necrosis factor receptor-associated factor (TRAF) gene families. Expression and regulation of NF-kappaB/Rel-dependent inhibitors of apoptosis have not been collectively studied in B-CLL.

Developmental stages and fine structure of surface callus formed after debarking of living lime trees (Tilia sp.).

Wounding of trees by debarking during the vegetative period sometimes results in the formation of callus tissue which develops over the entire wound surface or on parts of it. This light and transmission electron microscopy study of living lime trees found that the formation of such a surface callus is subdivided into three stages. During the first stage, numerous cell divisions take place in regions where differentiating xylem remains at the wound surface after debarking.

Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects.

Background: Mutations of the prophet of PIT-1 (PROP-1), a paired-like homeodomain transcription factor which is responsible for early embryonic pituitary development, have recently been reported as a cause of combined pituitary hormone deficiency.

Methods: We describe the phenotype, long-term auxological data and MRI findings in two families with 4 affected members, all of whom have a mutation of the PROP-1 gene. GH, TSH, PRL, LH and FSH were completely deficient in all patients.

[The use of cross-sectional imaging modalities in the diagnosis of heart valve diseases].

Exact visualization of valve morphology seems to be possible with the cross-sectional imaging modalities, magnetic resonance imaging (MRI) and the recently introduced technique of multi-detector computed tomography (MDCT). These techniques are used, if other non-invasive imaging modalities, like echocardiography, fail or provide only insufficient information. This commonly occurs in the assessment of right ventricular valves.

[The use of cross-sectional imaging modalities in the diagnosis of valvular heart disease].

Exact visualization of valve morphology seems to be possible with the cross-sectional imaging modalities, magnetic resonance imaging (MRI) and the recently introduced technique of multidetector computed tomography (MDCT). These techniques are used, if other non-invasive imaging modalities, like echocardiography, fail or provide only insufficient information. This commonly occurs in the assessment of right ventricular valves.

Transjugular intrahepatic portosystemic shunt. Experiences at a liver transplantation center.

Objective: Transjugular intrahepatic portosystemic shunt (TIPS) placement is an established therapy for portal hypertension that leads to variceal bleeding or refractory ascites. We present experiences of the role of TIPS at a liver transplantation center.

Material And Methods: One hundred and ten patients were referred to the Radiological Department for TIPS placement.

[Automated speech recognition for the generation of medical records in computed tomography].

Purpose: A study was performed to compare the performance of automatic speech recognition (ASR) with conventional transcription.

Materials And Methods: 100 CT reports were generated by using ASR and 100 CT reports were dictated and written by medical transcriptionists. The time for dictation and correction of errors by the radiologist was assessed and the type of mistakes was analysed.

[How can Romberg disease be evaluated by means of MRI?].

Romberg disease, also known as progressive facial hemiatrophy (PFH), is an uncommon disease with progressive facial asymmetry as the major symptom. It is a atrophic process of the subcutaneous fatty tissue whose etiology is unknown. Skin, muscles and bones can be secondarily afflicted.

Overexpression of cyclin D1 in human pancreatic carcinoma is associated with poor prognosis.

We have investigated the expression of cyclin D1 in adenocarcinoma of the pancreas and the relevance of cyclin D1 expression to clinical outcome. In comparison to normal pancreas, Southern blot analyses revealed amplification of the cyclin D1 coding gene in 25% of the cases, whereas with reverse transcription-PCR, overexpression of mRNA was observed in 82% of the examined tissues. Immunohistochemically, we could demonstrate nuclear overexpression in tumor cells in 68.